Inherited Peripheral Neuropathies Mutation Database

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IPN Mutations

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Mutations in FIG4

Name c.[122T>C]+[294delT]
Alias [Ile41Thr]+[Phe98fs]
Description Point mutation in coding region causing an amino acid substitution / Deletion in coding region causing a frameshift and a stop at codon 102
Codon Change From [ATT]+[-] to [ACT]+[-]
Phenotype CMT4J
htz/hmz compound htz
Family History isolated

Chow et al., 2007
References

Genomic cDNA Protein
Observed c.[122T>C]+[294delT]
Deduced c.[122T>C]+[294delT] [I41T]+[F98fsX102]
Region EX2+EX4 CDS
Date Added: 03-Dec-07 ID: 932

Name c.[122T>T]+[718C>T]
Alias [Ile41Thr]+[Arg183X]
Description Point mutation in coding region causing an amino acid substitution/Point mutation in coding region causing a stop mutation
Codon Change From [ATT]+[CGA] to [ACT]+[TGA]
Phenotype CMT4J
htz/hmz compound htz
Family History familial

Chow et al., 2007
References

Genomic cDNA Protein
Observed c.[122T>C]+[718C>T]
Deduced c.[122T>C]+[718C>T] [I41T]+[R183X]
Region EX2+EX6 CDS - + SAC
Date Added: 03-Dec-07 ID: 933

Name c.[122T>C]+[759delG]
Alias [Ile41Thr]+[Gly253fs]
Description Point mutation in coding region causing an amino acid substitution / Deletion in coding region causing a frameshift and a stop at codon 261
Codon Change From [ATT]+[-] to [ACT]+[-]
Phenotype CMT4J
htz/hmz compound htz
Family History isolated

Chow et al., 2007
References

Genomic cDNA Protein
Observed c.[122T>C]+[759delG]
Deduced c.[122T>C]+[759delG] [I41T]+[G253fsX261]
Region EX2+EX7 CDS - + SAC
Date Added: 03-Dec-07 ID: 934

Name c.[122T>C]+[1043_1050delATCAGGCA]
Alias [Ile41Thr]+[Asp348fs]
Description Point mutation in coding region causing an amino acid substitution / Deletion in coding region causing a frameshift and a stop at codon 359
Codon Change From [ATT]+[-] to [ACT]+[-]
Phenotype CMT4J
htz/hmz compound htz
Family History isolated

Chow et al., 2007
References

Genomic cDNA Protein
Observed c.[122T>C]+[1043_1050delATCAGGCA]
Deduced c.[122T>C]+[1043_1050delATCAGGCA] [I41T]+[D348fsX359]
Region EX2+EX10 CDS - + SAC
Date Added: 03-Dec-07 ID: 935



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